We Need to Reframe the Way We Think About Rare Diseases

On making medicine more “zebra”-friendly

Smith, C. I. E., Bergman, P., & Hagey, D. W. (2022). Estimating the number of diseases — the concept of rare, ultra-rare, and hyper-rare. Science, 25(8). https://doi.org/10.1016/j.isci.2022.104698 [CC BY-NC-ND 4.0]

Medical school students are frequently warned, “When you hear hoofbeats, look for horses, not zebras,” an aphorism that is essentially the diagnostic equivalent of Occam’s razor, telling students to suspect the obvious before the exotic. Admittedly, this adage only makes sense in certain contexts…